Canonical Allele Identifier: CA8814681
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80099591G>A
GRCh37 chr17:g.78073390G>A
Revel Score:
ENST00000397545 (MANE Select) 0.089
gnomAD v2:
17:78073390 G / A
gnomAD v3:
17:80099591 G / A
gnomAD v4:
chr17-80099591-G-A
Joint Max Group AF 0.00168778 (SAS)
Genomes Max Group AF 0.00082326 (SAS)
Exomes Max Group AF 0.00169598 (SAS)
ClinVar Allele:
340614
ClinVar RCV:
RCV000297156
RCV001094516
ClinVar Variation:
325748
dbSNP:
773033304
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099591G>A , CM000679.2:g.80099591G>A GRCh38
NC_000017.10:g.78073390G>A , CM000679.1:g.78073390G>A GRCh37
NC_000017.9:g.75687985G>A NCBI36
NG_009822.1:g.3036G>A , LRG_673:g.3036G>A
NG_029761.1:g.67960G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.3245G>A MANE Select ENSP00000380679.4:p.Arg1082His
ENST00000397545.8:c.3245G>A ENSP00000380679.4:p.Arg1082His
ENST00000574799.5:n.2782G>A
NM_017950.3:c.3245G>A NP_060420.2:p.Arg1082His
XM_011524963.1:c.3155G>A XP_011523265.1:p.Arg1052His
XM_011524964.1:c.2066G>A XP_011523266.1:p.Arg689His
XM_011524963.3:c.3155G>A XP_011523265.1:p.Arg1052His
XM_011524964.3:c.2066G>A XP_011523266.1:p.Arg689His
XM_024450821.1:c.3155G>A XP_024306589.1:p.Arg1052His
XR_934495.2:n.3363G>A
NM_017950.4:c.3245G>A MANE Select NP_060420.2:p.Arg1082His
Search 100 bp 5'
Search 100 bp 3'